Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SPEF2_chr5_35612863_35819611	35614363	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0026 a0026	a0026c0034 a0026c0034	a0026c0034t0001 a0026c0034t0001	a0026c0034t0001g0019 a0026c0034t0001g0019	1	182	0.0055	35	c.-36 others(46): Show c.-3635_-3634insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding		3499		chr5	TogoVar
SPHK2_chr19_48614506_48635405	48616643	C C	CCAGCACA others(28): Show CCAGCACAGCACAGCACAGCACAGCACAGCACAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG02056.hp2 HG00544.hp1 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0036 a0001c0001t0001g0020 a0001c0001t0001g0036	2	198	0.0101	35	c.-30 others(46): Show c.-3014_-3013insCAGCACAGCACAGCACAGCACAGCACAGCACAGC A	SPHK2	ENSG00000063176.16	transcript	ENST00000245222.9	protein_coding		2862		chr19	TogoVar
SPHKAP_chr2_227974955_228186687	228092407	A A	ACATATAT others(28): Show ACATATATACATATATACATATATGTATATATGTGC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0103 a0003c0006t0001g0103	1	320	0.0031	35	c.246 others(54): Show c.246+16390_246+16424dupGCACATATATACATATATGTATATAT GTATATATG	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	3/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228139910	T T	TTTCTTTC others(28): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0003 a0005c0004t0003	a0005c0004t0003g0206 a0005c0004t0003g0206	1	183	0.0055	35	c.33- others(50): Show c.33-7826_33-7825insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	1/11			chr2	TogoVar
SPINK5_chr5_148058980_148142382	148123414	T T	TTATATAT others(28): Show TTATATATAGATAGATATTATCTATCTATCTATATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02559.hp1 HG03209.hp1 others(1): Show HG01069.hp1 HG02559.hp1 HG03209.hp1 HG03579.hp2	a0006 a0014 a0006 a0014	a0006c0012 a0014c0023 a0006c0012 a0014c0023	a0006c0012t0007 a0014c0023t0001 a0006c0012t0007 a0014c0023t0001	a0006c0012t0007g0005 a0014c0023t0001g0254 a0006c0012t0007g0005 a0014c0023t0001g0254	4	225	0.0178	35	c.253 others(52): Show c.2539-411_2539-410insGATAGATATTATCTATCTATCTATATAT ATATATA	SPINK5	ENSG00000133710.17	transcript	ENST00000256084.8	protein_coding	26/32		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINK5_chr5_148058980_148142382	148123414	T T	TTATATAT others(28): Show TTATATATAGATAGATATTATCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	222	0.0045	35	c.253 others(52): Show c.2539-411_2539-410insGATAGATATTATCTATCTATCTATCTAT ATATATA	SPINK5	ENSG00000133710.17	transcript	ENST00000256084.8	protein_coding	26/32		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0003 a0005c0008t0003	a0005c0008t0003g0319 a0005c0008t0003g0319	1	138	0.0072	35	c.372 others(54): Show c.372+19716_372+19717insATATATATATATATATATTTTTTTTT TTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0037 a0001c0001t0006g0037	1	138	0.0072	35	c.372 others(54): Show c.372+19716_372+19717insATATATATATATATATATATATTTTT TTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	30	0.0333	35	c.180 others(52): Show c.1807-513_1807-512insAAAAAAAAAAAAAAATATATATATATAT ATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	30	0.0333	35	c.180 others(52): Show c.1807-513_1807-512insAAAAAAAAAAATATATATATATATATAT ATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(28): Show AAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA19080.hp1 NA18612.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0142 a0001c0001t0001g0067 a0001c0001t0001g0142	2	31	0.0645	35	c.180 others(52): Show c.1807-513_1807-512insAAAAAAAAATATATATATATATATATAT ATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(28): Show AAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18971.hp1 NA19079.hp2 HG00673.hp2 NA18971.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0037 a0001c0001t0001g0094 a0001c0001t0004g0072 a0001c0001t0001g0037 a0001c0001t0001g0094 a0001c0001t0004g0072	3	32	0.0938	35	c.180 others(52): Show c.1807-513_1807-512insAAAAAAATATATATATATATATATATAT ATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAC others(28): Show AAAAAAACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0343 a0001c0001t0003g0343	1	30	0.0333	35	c.180 others(52): Show c.1807-513_1807-512insAAAAACATATATATATATATATATATAT ATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAT others(28): Show AAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01361.hp2 HG01256.hp1 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0015 a0001c0001t0004 a0001c0001t0015	a0001c0001t0004g0132 a0001c0001t0015g0125 a0001c0001t0004g0132 a0001c0001t0015g0125	2	31	0.0645	35	c.180 others(52): Show c.1807-513_1807-512insAAAAATATATATATATATATATATATAT ATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAATAT others(28): Show AAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0309	1	30	0.0333	35	c.180 others(52): Show c.1807-513_1807-512insAAATATATATATATATATATATATATAT ATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAATATAT others(28): Show AAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	30	0.0333	35	c.180 others(52): Show c.1807-513_1807-512insATATATATATATATATATATATATATAT ATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPNS2_chr17_4493881_4544035	4494974	T T	TAAAAAAA others(28): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG02572.hp2 HG03098.hp2 HG00558.hp1 HG02572.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0025 a0001c0003t0004 a0001c0001t0002 a0001c0001t0025 a0001c0003t0004	a0001c0001t0002g0127 a0001c0001t0025g0174 a0001c0003t0004g0351 a0001c0001t0002g0127 a0001c0001t0025g0174 a0001c0003t0004g0351	3	44	0.0682	35	c.-40 others(46): Show c.-4074_-4073insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	SPNS2	ENSG00000183018.9	transcript	ENST00000329078.8	protein_coding		3906		chr17	TogoVar
SPNS3_chr17_4428940_4493204	4468721	T T	TTTCTTTC others(28): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0003 a0003c0008t0003	a0003c0008t0003g0103 a0003c0008t0003g0103	1	46	0.0217	35	c.111 others(54): Show c.1114-9849_1114-9848insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTT	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPOCD1_chr1_31785422_31821022	31808796	A A	AAATTATA others(28): Show AAATTATATAGATTAATAAAATTAATTATATAGATT	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18972.hp1 NA19060.hp1 HG00544.hp1 NA18972.hp1 NA19060.hp1	a0009 a0020 a0021 a0009 a0020 a0021	a0009c0025 a0020c0026 a0021c0027 a0009c0025 a0020c0026 a0021c0027	a0009c0025t0001 a0020c0026t0001 a0021c0027t0002 a0009c0025t0001 a0020c0026t0001 a0021c0027t0002	a0009c0025t0001g0253 a0020c0026t0001g0252 a0021c0027t0002g0254 a0009c0025t0001g0253 a0020c0026t0001g0252 a0021c0027t0002g0254	3	258	0.0116	35	c.138 others(54): Show c.1383+5154_1383+5155insAATCTATATAATTAATTTTATTAATC TATATAATT	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	35	0.0286	35	c.-12 others(46): Show c.-1200_-1199insAAAAAAAAATATATATATATATATATATATATAT A	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	35	0.0286	35	c.-12 others(46): Show c.-1200_-1199insAAAAAAAAAAATATATATATATATATATATATAT A	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPON1_chr11_13957723_14273133	14272671	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	67	0.0149	35	c.69 others(46): Show c.6984_*6985insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding		4539		chr11	TogoVar
SPRR1B_chr1_153026203_153037900	153028185	G G	GCACTCCT others(28): Show GCACTCCTGAGTGTCTATTGTTCCCACCTTTGTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp2 NA18973.hp1 NA18990.hp2 others(2): Show NA18971.hp2 NA18973.hp1 NA18990.hp2 NA19003.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	5	442	0.0113	35	c.-30 others(46): Show c.-3082_-3081insCACTCCTGAGTGTCTATTGTTCCCACCTTTGTGT C	SPRR1B	ENSG00000169469.9	transcript	ENST00000307098.5	protein_coding		3017		chr1	TogoVar
SPRY3_chrX_155607586_155787459	155616130	C C	CTCTCTCT others(28): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0101 a0001c0001t0101	a0001c0001t0101g0130 a0001c0001t0101g0130	1	116	0.0086	35	c.-28 others(54): Show c.-282+3483_-282+3484insTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2			chrX	TogoVar
SPTBN1_chr2_54451327_54676446	54522704	A A	AGAGAGAG others(28): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0073 a0001c0003t0003g0073	1	365	0.0027	35	c.-47 others(52): Show c.-47-3668_-47-3667insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAG	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35			chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54576055	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0007 a0001c0018t0007	a0001c0018t0007g0112 a0001c0018t0007g0112	1	129	0.0078	35	c.149 others(54): Show c.149-23020_149-23019insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTY2D1_chr11_18601403_18639342	18621323	C C	CAGAAAAG others(28): Show CAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0302 a0001c0001t0001g0302	1	71	0.0141	35	c.61- others(50): Show c.61-4369_61-4335dupTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCT	SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	1/5			chr11	TogoVar
SRC_chr20_37341140_37411050	37360218	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0017 a0001c0001t0015g0017	1	171	0.0058	35	c.-24 others(54): Show c.-246-4966_-246-4965insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
SREBF1_chr17_17806334_17841986	17829205	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0027 a0001c0002t0003g0027	1	194	0.0052	35	c.91+ others(50): Show c.91+7521_91+7522insATATATATATTTTTTTTTTTTTTTTTTTTT TTTTT	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18			chr17	TogoVar
SREBF1_chr17_17806334_17841986	17829205	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02647.hp2 HG02451.hp2 HG02647.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0008 a0001c0002 a0005c0008	a0001c0002t0003 a0005c0008t0003 a0001c0002t0003 a0005c0008t0003	a0001c0002t0003g0027 a0005c0008t0003g0025 a0001c0002t0003g0027 a0005c0008t0003g0025	2	195	0.0103	35	c.91+ others(50): Show c.91+7521_91+7522insATATATATATATATTTTTTTTTTTTTTTTT TTTTT	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18			chr17	TogoVar
SREK1IP1_chr5_64713148_64773691	64731521	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 NA18962.hp1 HG00280.hp1 NA18962.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0033 a0001c0003t0012g0036 a0001c0003t0012g0033 a0001c0003t0012g0036	2	277	0.0072	35	c.206 others(52): Show c.206-3343_206-3342insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	SREK1IP1	ENSG00000153006.16	transcript	ENST00000513458.9	protein_coding	3/4			chr5	TogoVar
SRGAP2_chr1_206198541_206469436	206279581	A A	ATTTTTTT others(28): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0032 a0001c0003t0032	a0001c0003t0032g0165 a0001c0003t0032g0165	1	51	0.0196	35	c.68- others(52): Show c.68-23682_68-23681insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRP19_chr5_112856287_112874788	112871244	T T	TAAAAAAA others(28): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	406	0.0025	35	c.37 others(46): Show c.3707_*3708insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	SRP19	ENSG00000153037.15	transcript	ENST00000505459.6	protein_coding		1457		chr5	TogoVar
SRP68_chr17_76033785_76077517	76062578	C C	CATTATAT others(28): Show CATTATATATTATATAATATATAATGTACATTATAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0303 a0001c0003t0001g0303	1	328	0.0030	35	c.562 others(52): Show c.562-1005_562-1004insATATAATGTACATTATATATTATATAAT ATATAAT	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRP68_chr17_76033785_76077517	76062578	C C	CATTATAT others(28): Show CATTATATATTATATATTATATAATATACATTATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02717.hp2 HG02109.hp1 HG02717.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0322 a0001c0003t0001g0323 a0001c0003t0001g0322 a0001c0003t0001g0323	2	329	0.0061	35	c.562 others(52): Show c.562-1005_562-1004insATATAATGTATATTATATAATATATAAT ATATAAT	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRPK1_chr6_35827966_35926098	35880742	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	88	0.0114	35	c.478 others(52): Show c.478+5981_478+5982insCTTTCTTTCTTTTTTTTTTTTTTTTTTT TTTTTTT	SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding	6/15			chr6	TogoVar
SRRM1_chr1_24638302_24678281	24640519	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01361.hp1 NA18985.hp2 HG00741.hp1 HG01361.hp1 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0160 a0001c0001t0001g0167 a0001c0001t0001g0136 a0001c0001t0001g0160 a0001c0001t0001g0167	3	117	0.0256	35	c.-28 others(46): Show c.-2808_-2807insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding		2782		chr1	TogoVar
SRRM1_chr1_24638302_24678281	24640541	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	350	0.0029	35	c.-27 others(46): Show c.-2786_-2785insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA C	SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding		2760		chr1	TogoVar
SRXN1_chr20_641615_658200	642391	G G	GGCCCAGC others(28): Show GGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02647.hp1 HG02572.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	2	4	0.5000	35	c.63 others(46): Show c.6322_*6323insGCCCCCCCCCACAGGCAACTCCACCCCCGCTGGG C	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4223		chr20	TogoVar
SS18L1_chr20_62138769_62187514	62183065	C C	CGGGAGCG others(28): Show CGGGAGCGGGGAGCGGGGAGCGGGGAGCGGGGAGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0024 a0002c0003t0005g0024	1	269	0.0037	35	c.38 others(46): Show c.3857_*3858insGGGAGCGGGGAGCGGGGAGCGGGGAGCGGGGAGC G	SS18L1	ENSG00000184402.15	transcript	ENST00000331758.8	protein_coding		552		chr20	TogoVar
SSBP2_chr5_81407804_81756097	81415922	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00621.hp1 NA18943.hp1 HG00621.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0021 a0001c0001t0028g0031 a0001c0001t0028g0021 a0001c0001t0028g0031	2	72	0.0278	35	c.45 others(46): Show c.4581_*4582insCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	17/17	4581		chr5	TogoVar
SSBP3_chr1_54220432_54411394	54276608	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0113 a0001c0001t0004g0113	1	61	0.0164	35	c.366 others(52): Show c.366+4829_366+4830insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	5/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54396193	G G	GAAAAAAA others(28): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0278 a0001c0002t0028g0278	1	97	0.0103	35	c.276 others(52): Show c.276+5667_276+5668insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSB_chr2_169793871_169817064	169800534	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA19005.hp1 NA18943.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0100 a0001c0001t0002g0101 a0001c0001t0001g0100 a0001c0001t0002g0101	2	10	0.2000	35	c.-9- others(48): Show c.-9-399_-9-398insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	SSB	ENSG00000138385.16	transcript	ENST00000260956.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
SSC4D_chr7_76384337_76414697	76394799	A A	ATATATAA others(28): Show ATATATAAGATATATATAATATATATGATATATATT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0103 a0001c0004t0003g0103	1	386	0.0026	35	c.946 others(50): Show c.946+453_946+454insAATATATATCATATATATTATATATATCTT ATATA	SSC4D	ENSG00000146700.9	transcript	ENST00000275560.4	protein_coding	7/10			chr7	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01346.hp2 HG02132.hp1 HG00544.hp1 HG01346.hp2 HG02132.hp1	a0001 a0005 a0001 a0005	a0001c0006 a0001c0086 a0005c0005 a0001c0006 a0001c0086 a0005c0005	a0001c0006t0001 a0001c0086t0001 a0005c0005t0001 a0001c0006t0001 a0001c0086t0001 a0005c0005t0001	a0001c0006t0001g0124 a0001c0086t0001g0289 a0005c0005t0001g0339 a0001c0006t0001g0124 a0001c0086t0001g0289 a0005c0005t0001g0339	3	192	0.0156	35	c.138 others(52): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0049 a0001c0049	a0001c0049t0001 a0001c0049t0001	a0001c0049t0001g0050 a0001c0049t0001g0050	1	190	0.0053	35	c.138 others(52): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT TTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	190	0.0053	35	c.138 others(52): Show c.1387+451_1387+452insATATATATATATATATATATATATTTTT TTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSH1_chr12_108773191_108862583	108859921	A A	AGGAGGGG others(28): Show AGGAGGGGAGGGGAGGGGAGAGGAGGGGAGGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02615.hp1 HG02622.hp2 others(2): Show HG01109.hp1 HG02615.hp1 HG02622.hp2 HG02976.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0055 a0001c0001t0007 a0001c0001t0055	a0001c0001t0007g0009 a0001c0001t0007g0117 a0001c0001t0007g0132 others(1): Show a0001c0001t0007g0009 a0001c0001t0007g0117 a0001c0001t0007g0132 a0001c0001t0055g0116	5	171	0.0292	35	c.-24 others(46): Show c.-2426_-2425insCCTCCCCTCCCCTCCTCTCCCCTCCCCTCCCCTC C	SSH1	ENSG00000084112.15	transcript	ENST00000326495.10	protein_coding		2339		chr12	TogoVar
SSR2_chr1_156004048_156025951	156004365	A A	AATATATA others(28): Show AATATATATTATATATAAATAAATAATATATATTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA21309.hp2 NA19030.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	2	344	0.0058	35	c.51 others(46): Show c.5140_*5174dupATAATATATATTATTTATTTATATATAATATATA T	SSR2	ENSG00000163479.14	transcript	ENST00000295702.9	protein_coding		4682		chr1	TogoVar

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